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rs386833871

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833871(C;T)
Make rs386833871(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35848672
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833871
ebirs386833871
HLIrs386833871
Exacrs386833871
Varsomers386833871
Maprs386833871
PheGenIrs386833871
hapmaprs386833871
1000 genomesrs386833871
hgdprs386833871
ensemblrs386833871
gopubmedrs386833871
geneviewrs386833871
scholarrs386833871
googlers386833871
pharmgkbrs386833871
gwascentralrs386833871
openSNPrs386833871
23andMers386833871
23andMe allrs386833871
SNP Nexus

SNPshotrs386833871
SNPdbers386833871
MSV3drs386833871
GWAS Ctlgrs386833871
Max Magnitude0
ClinVar
Risk rs386833871(T;T)
Alt rs386833871(T;T)
Reference rs386833871(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36339574G>A
CLNSRC ClinVar
CLNACC RCV000049840.1,


[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.


[PMID 19321760] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.